Linked Data
ClinVar Variation Id:
2855126
ClinVar RCV Id:
RCV003701252
gnomAD v4:
1-179575808-A-G
MyVariant Identifiers:
chr1:g.179544943A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179575808A>G , CM000663.2:g.179575808A>G | GRCh38 |
| NC_000001.10:g.179544943A>G , CM000663.1:g.179544943A>G | GRCh37 |
| NC_000001.9:g.177811566A>G | NCBI36 |
| NG_007535.1:g.5142T>C , LRG_887:g.5142T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.57T>C MANE Select | ENSP00000356587.4:p.Thr19= | |
| ENST00000367615.8:c.57T>C | ENSP00000356587.4:p.Thr19= | |
| ENST00000367616.4:c.57T>C | ENSP00000356588.4:p.Thr19= | |
| NM_001297575.1:c.57T>C | NP_001284504.1:p.Thr19= | |
| NM_014625.3:c.57T>C , LRG_887t1:c.57T>C | NP_055440.1:p.Thr19= | |
| XM_005245483.2:c.57T>C | XP_005245540.1:p.Thr19= | |
| XM_006711529.2:c.57T>C | XP_006711592.1:p.Thr19= | |
| XM_005245483.3:c.57T>C | XP_005245540.1:p.Thr19= | |
| XM_017002298.1:c.57T>C | XP_016857787.1:p.Thr19= | |
| XM_017002299.1:c.57T>C | XP_016857788.1:p.Thr19= | |
| NM_001297575.2:c.57T>C | NP_001284504.1:p.Thr19= | |
| NM_014625.4:c.57T>C MANE Select | NP_055440.1:p.Thr19= |